view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNBD1_chr8_86861415_87387859 | 86951581 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02895.hp2 others(2): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0007 | a0001c0001t0001a0001c0001t0003a0004c0004t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0117 a0001c0001t0003g0111 others(2): Show |
5 | 152 | 0.0329 | -10 | c.431 others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 86969791 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 152 | 0.0066 | -10 | c.431 others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87106157 | CTTCCTTT others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(5): Show |
8 | 152 | 0.0526 | -10 | c.432 others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87240065 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0072 | 1 | 152 | 0.0066 | -10 | c.771 others(27): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87255972 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0118 a0004c0004t0001g0148 |
2 | 152 | 0.0132 | -10 | c.771 others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256007 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0116 | 1 | 152 | 0.0066 | -10 | c.771 others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87266438 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 152 | 0.0066 | -10 | c.772 others(29): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87281541 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0094 others(3): Show |
6 | 152 | 0.0395 | -10 | c.772 others(27): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD2_chr20_35963590_36035700 | 35994190 | CGAATAGC others(3): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 268 | 0.0037 | -10 | c.856 others(25): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNBD2_chr20_35963590_36035700 | 36033506 | AATTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0213 | 1 | 268 | 0.0037 | -10 | c.*28 others(21): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 2807 | chr20 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129164210 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0260 a0001c0001t0004g0288 |
2 | 430 | 0.0047 | -10 | c.*62 others(21): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3616 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129164237 | AAAAAAAA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | -10 | c.*62 others(21): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3589 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172681 | CAGACAGA others(3): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0348 | 1 | 430 | 0.0023 | -10 | c.-14 others(25): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172685 | CAGACAGA others(3): Show |
C | intron_variant | MODIFIER | HG02965.hp2 NA18522.hp1 NA18946.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0002t0011 | a0001c0001t0004g0288 a0001c0001t0007g0078 a0001c0002t0011g0231 |
3 | 430 | 0.0070 | -10 | c.-14 others(25): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172687 | GACAGACA others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0377 a0001c0002t0017g0378 |
2 | 430 | 0.0047 | -10 | c.-14 others(25): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172691 | GACAGACA others(3): Show |
G | intron_variant | MODIFIER | HG03041.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0023 | a0001c0001t0003g0239 a0001c0002t0023g0373 |
2 | 430 | 0.0047 | -10 | c.-14 others(25): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172695 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | NA18955.hp1 NA18968.hp2 NA18982.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0136 others(1): Show |
4 | 430 | 0.0093 | -10 | c.-14 others(25): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNDP1_chr18_74529500_74592212 | 74543509 | CAAAATAA others(3): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03453.hp1 HG03471.hp1 |
a0001a0002a0005 | a0001c0002a0002c0004a0005c0012 | a0001c0002t0005a0002c0004t0004a0005c0012t0041 | a0001c0002t0005g0019 a0002c0004t0004g0020 a0005c0012t0041g0112 |
3 | 390 | 0.0077 | -10 | c.24+ others(25): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74579181 | CTCCCTTT others(3): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0051 | a0002c0051t0006 | a0002c0051t0006g0128 | 1 | 390 | 0.0026 | -10 | c.116 others(27): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74579193 | CCCTTCCC others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01168.hp2 HG01358.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0007a0001c0029others(5): Show | a0001c0002t0001a0001c0007t0002a0001c0029t0002others(6): Show | a0001c0002t0001g0217 a0001c0002t0001g0238 a0001c0007t0002g0195 others(9): Show |
12 | 390 | 0.0308 | -10 | c.116 others(27): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74579203 | GCCTTCCC others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(155): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0024 a0001c0001t0001g0114 a0001c0001t0001g0132 others(153): Show |
158 | 390 | 0.4051 | -10 | c.116 others(27): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74579261 | CTCCTGTT others(3): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG03098.hp2 |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0004a0004c0010t0004 | a0001c0002t0004g0082 a0004c0010t0004g0070 |
2 | 390 | 0.0051 | -10 | c.116 others(27): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74581218 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0207 | 1 | 390 | 0.0026 | -10 | c.130 others(27): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47938177 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0092 | 1 | 366 | 0.0027 | -10 | c.653 others(25): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 10/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47938983 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 366 | 0.0027 | -10 | c.653 others(27): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 10/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47955173 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(127): Show |
140 | 366 | 0.3825 | -10 | c.-14 others(27): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47962565 | TCAGGTTC others(3): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 366 | 0.0027 | -10 | c.-14 others(27): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47984663 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(66): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(61): Show |
69 | 366 | 0.1885 | -10 | c.-12 others(29): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 48012558 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00609.hp2 others(52): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0045 others(50): Show |
55 | 366 | 0.1503 | -10 | c.-22 others(29): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
CNGA2_chrX_151729746_151750564 | 151749311 | CGTGTGTG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 HG03225.hp1 |
a0007 | a0007c0011 | a0007c0011t0002 | a0007c0011t0002g0091 a0007c0011t0002g0096 |
2 | 336 | 0.0060 | -10 | c.*48 others(21): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 3748 | chrX | TogoVar | |||||||
CNGA3_chr2_98341456_98403601 | 98392574 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0306 | 1 | 338 | 0.0030 | -10 | c.673 others(25): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNGA4_chr11_6234089_6249479 | 6244585 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 412 | 0.0049 | -10 | c.*17 others(19): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 107 | chr11 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879743 | TTCTTTCT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02572.hp2 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0016a0002c0109a0005c0048others(1): Show | a0001c0016t0004a0002c0109t0004a0005c0048t0016others(1): Show | a0001c0016t0004g0313 a0002c0109t0004g0108 a0005c0048t0016g0354 others(1): Show |
4 | 360 | 0.0111 | -10 | c.*44 others(21): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2596 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57883416 | ATGTGAAC others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0246 | 1 | 360 | 0.0028 | -10 | c.*73 others(19): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 33/33 | 738 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57885578 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG00738.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0007a0001c0002t0007a0001c0004t0014others(18): Show | a0001c0001t0007g0290 a0001c0002t0007g0126 a0001c0004t0014g0192 others(20): Show |
23 | 360 | 0.0639 | -10 | c.346 others(29): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57912572 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0018 | a0018c0062 | a0018c0062t0027 | a0018c0062t0027g0324 | 1 | 360 | 0.0028 | -10 | c.236 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 24/32 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57917627 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02970.hp2 others(2): Show |
a0005a0013a0048 | a0005c0045a0005c0046a0013c0031others(1): Show | a0005c0045t0003a0005c0046t0036a0013c0031t0004others(1): Show | a0005c0045t0003g0342 a0005c0046t0036g0348 a0013c0031t0004g0333 others(2): Show |
5 | 360 | 0.0139 | -10 | c.195 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 20/32 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57932400 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0084 | 1 | 360 | 0.0028 | -10 | c.137 others(27): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 16/32 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57950944 | TTGTCCTG others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp1 HG03209.hp1 others(3): Show |
a0001a0004 | a0001c0002a0001c0016a0001c0027others(3): Show | a0001c0002t0001a0001c0016t0010a0001c0027t0003others(3): Show | a0001c0002t0001g0056 a0001c0016t0010g0057 a0001c0027t0003g0058 others(3): Show |
6 | 360 | 0.0167 | -10 | c.875 others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 12/32 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57968606 | ACTAATTG others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0003others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0003 a0001c0001t0001g0195 a0001c0001t0001g0205 others(141): Show |
145 | 360 | 0.4028 | -10 | c.-8- others(25): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 1/32 | chr16 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86598005 | TAAAATTA others(3): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 288 | 0.0035 | -10 | c.178 others(29): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86635855 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 288 | 0.0035 | -10 | c.117 others(29): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 10/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86635857 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02965.hp1 NA18968.hp1 |
a0001a0011 | a0001c0001a0011c0009 | a0001c0001t0001a0011c0009t0002 | a0001c0001t0001g0222 a0011c0009t0002g0102 |
2 | 288 | 0.0069 | -10 | c.117 others(29): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 10/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86720833 | TATGTATA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0016a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 others(53): Show |
56 | 288 | 0.1944 | -10 | c.338 others(27): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86720839 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02970.hp2 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0166 a0002c0002t0001g0174 a0002c0002t0005g0167 |
3 | 288 | 0.0104 | -10 | c.338 others(27): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | |||||||
CNIH3_chr1_224611317_224745554 | 224674272 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01952.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 a0001c0001t0001g0293 |
2 | 358 | 0.0056 | -10 | c.82- others(25): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224695357 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01993.hp2 HG02148.hp2 HG02717.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(14): Show |
17 | 358 | 0.0475 | -10 | c.198 others(29): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224695386 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG03654.hp2 HG04184.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0272 a0001c0001t0006g0027 a0001c0001t0006g0028 others(7): Show |
10 | 358 | 0.0279 | -10 | c.198 others(29): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224724050 | CAAAAAAT others(3): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 358 | 0.0028 | -10 | c.199 others(27): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21372592 | TACATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 163 | 0.0061 | -10 | c.-23 others(21): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1825 | chrX | TogoVar |